Varaico: Literature-Extracted Genetic Variants

TH

1,078 papers

RefSeq Summary

The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of a...

Pfam Domains

TOH_Naa 2–26UCSCTyrosine hydroxylase N terminal

TOH_Naa 56–80UCSCTyrosine hydroxylase N terminal

TH_ACTaa 110–179UCSCTyrosine 3-monooxygenase-like, ACT domain

Biopterin_Haa 195–525UCSCBiopterin-dependent aromatic amino acid hydroxylase

Gene Aliases

HGNC Name

tyrosine hydroxylase

HGNC Alias Symbol

DYT5b

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000360.4

p.E153Q

c.457G>C

Surrounding Variants

1 paper

NM_000360.4

p.S152delFs

c.454delA

1 paper

NM_000360.4

p.D154fs

c.460_461fs

1 paper

NM_000360.4

p.V155M

c.463G>A

1 paper

NM_000360.4

p.Q150R

c.449A>G

1 paper

NM_000360.4

p.Q150*

c.448C>T

1 paper

NM_000360.4

p.R149R

c.447C>G

2 papers

NM_000360.4

p.R149C

c.445C>T

1 paper

NM_000360.4

p.V148V

c.444G>A

1 paper

NM_000360.4

p.P158A

c.472C>G

1 paper

NM_000360.4

p.P158R

c.473C>G

1 paper

NM_000360.4

p.G147D

c.440G>A

1 paper

NM_000360.4

p.L145R

c.434T>G